Truncating mutations in ASXL3 have been known to cause:
- Failure to thrive
- Global developmental delay
- Feeding
problems
- Gastrointestinal problems including reflux, chronic constipation, and oral aversion
- Hypotonia
- Dysmorphic
features
- Square facies
- Downslanting palpebral fissures
- Low-set ears
- Broad nasal bridge
- Small short nose and/or chin
- Micrognathia
- Anteverted nares
- Profound speech delays
- Intellectual disability